Incidental Mutation 'R3814:Enthd1'
| ID |
274209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enthd1
|
| Ensembl Gene |
ENSMUSG00000050439 |
| Gene Name |
ENTH domain containing 1 |
| Synonyms |
LOC383075 |
| MMRRC Submission |
040769-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80336441-80449357 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80336883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 517
(Y517F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096347]
[ENSMUST00000229110]
|
| AlphaFold |
E9Q1Z2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096347
AA Change: Y517F
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000094072
Gene: ENSMUSG00000050439
AA Change: Y517F
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
15 |
141 |
1.53e-50 |
SMART |
|
low complexity region
|
419 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229110
AA Change: Y517F
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,642,343 (GRCm39) |
V4A |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,964,570 (GRCm39) |
|
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,248,712 (GRCm39) |
W274L |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,959,166 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Cyp2c55 |
T |
A |
19: 38,995,509 (GRCm39) |
L7Q |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,383,476 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
G |
A |
7: 35,426,717 (GRCm39) |
Q64* |
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| G2e3 |
C |
T |
12: 51,400,444 (GRCm39) |
T32I |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,682,330 (GRCm39) |
S302P |
probably benign |
Het |
| Ino80d |
C |
T |
1: 63,113,583 (GRCm39) |
R289Q |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,809 (GRCm39) |
L161P |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,745 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,901,936 (GRCm39) |
S328P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 20,016,426 (GRCm39) |
V1339D |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,763,281 (GRCm39) |
V444M |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,849,470 (GRCm39) |
I1277V |
probably damaging |
Het |
| Mvp |
T |
A |
7: 126,586,801 (GRCm39) |
M777L |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,947,414 (GRCm39) |
R1423W |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,750 (GRCm39) |
E1085G |
probably damaging |
Het |
| Prune1 |
A |
C |
3: 95,172,750 (GRCm39) |
V105G |
probably damaging |
Het |
| Rbpj |
G |
T |
5: 53,810,514 (GRCm39) |
E399* |
probably null |
Het |
| Rp1 |
C |
A |
1: 4,419,931 (GRCm39) |
V394L |
probably benign |
Het |
| S100a4 |
G |
A |
3: 90,513,152 (GRCm39) |
A83T |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,089,935 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,378,633 (GRCm39) |
E680G |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,696,191 (GRCm39) |
I919N |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,899,093 (GRCm39) |
K478N |
probably damaging |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
|
| Other mutations in Enthd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Enthd1
|
APN |
15 |
80,336,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02127:Enthd1
|
APN |
15 |
80,336,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Enthd1
|
UTSW |
15 |
80,336,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Enthd1
|
UTSW |
15 |
80,418,695 (GRCm39) |
splice site |
probably null |
|
|
R1237:Enthd1
|
UTSW |
15 |
80,418,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Enthd1
|
UTSW |
15 |
80,336,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Enthd1
|
UTSW |
15 |
80,337,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Enthd1
|
UTSW |
15 |
80,358,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Enthd1
|
UTSW |
15 |
80,444,550 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3420:Enthd1
|
UTSW |
15 |
80,444,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Enthd1
|
UTSW |
15 |
80,444,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4403:Enthd1
|
UTSW |
15 |
80,337,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4720:Enthd1
|
UTSW |
15 |
80,444,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Enthd1
|
UTSW |
15 |
80,336,916 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6143:Enthd1
|
UTSW |
15 |
80,393,487 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6984:Enthd1
|
UTSW |
15 |
80,444,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Enthd1
|
UTSW |
15 |
80,336,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Enthd1
|
UTSW |
15 |
80,393,410 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7177:Enthd1
|
UTSW |
15 |
80,358,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Enthd1
|
UTSW |
15 |
80,444,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Enthd1
|
UTSW |
15 |
80,358,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8511:Enthd1
|
UTSW |
15 |
80,358,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Enthd1
|
UTSW |
15 |
80,444,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9620:Enthd1
|
UTSW |
15 |
80,336,901 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACTAAGTTCCTGGATCACC -3'
(R):5'- CTTTATCCCGGTTATGGCCAGC -3'
Sequencing Primer
(F):5'- TCACCAGGCTCAGGTCATCATG -3'
(R):5'- CGGTTATGGCCAGCTCTTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation